Status:

COMPLETED

Mitochondrial Biomarkers in Huntington's Disease

Lead Sponsor:

University Hospitals Cleveland Medical Center

Collaborating Sponsors:

Case Western Reserve University

National Institute of Neurological Disorders and Stroke (NINDS)

Conditions:

Huntington Disease

Eligibility:

All Genders

20-85 years

Brief Summary

The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease.

Detailed Description

This investigator-initiated, single-site longitudinal study seeks to assess the utility of mitochondrial metabolomics -- panels of small molecules that affect mitochondrial function -- to diagnose pre...

Eligibility Criteria

Inclusion

  • Age 20 to 85
  • Montreal Cognitive Assessment score \>10
  • HD subjects had onset of HD symptoms after the age of 20
  • HD subjects with Diagnostic Confidence Level (DCL) of 0-3 (pre-symptomatic or pre-manifest) must have at least 40 CAG repeats on one HTT allele
  • HD subjects with Diagnostic Confidence Level (DCL) of 4 (manifest) must have at least 36 CAG repeats on one HTT allele
  • Controls are asymptomatic without family history of HD or have \<36 CAG repeats on both HTT alleles with family history of HD

Exclusion

  • HD subjects who did not already have genetic testing are excluded from this study
  • Pregnancy or plans to become pregnant during the study
  • Investigational drugs within 3 months of screening visit
  • Alcohol or illicit drug abuse or dependence
  • Other genetic or neurological disorders
  • Other medical or psychiatric illness that in the investigator's judgement will prevent ability to tolerate or undergo study procedures
  • For those volunteering for lumbar puncture (LP), bleeding disorders or excessive bleeding, anticoagulation, aspirin if unable to safely stop taking it at least 7 days prior to LP, other antiplatelet medications, inability to tolerate LP, allergy to local anesthetic or chlorhexidine, major lumbar spine deformity, low platelets or abnormal coagulation factors PT/APTT

Key Trial Info

Start Date :

April 4 2019

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

February 28 2022

Estimated Enrollment :

27 Patients enrolled

Trial Details

Trial ID

NCT04515550

Start Date

April 4 2019

End Date

February 28 2022

Last Update

April 12 2022

Active Locations (1)

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University Hospitals Cleveland Medical Center

Cleveland, Ohio, United States, 44106